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Aliases for AGBL4 Gene

Aliases for AGBL4 Gene

  • ATP/GTP Binding Protein-Like 4 2 3 5
  • ATP/GTP-Binding Protein-Like 4 3 4
  • CCP6 3 4
  • Cytosolic Carboxypeptidase 6 2
  • EC 3.4.17.- 4

External Ids for AGBL4 Gene

Previous GeneCards Identifiers for AGBL4 Gene

  • GC01M048762
  • GC01M048825
  • GC01M048998
  • GC01M047116

Summaries for AGBL4 Gene

GeneCards Summary for AGBL4 Gene

AGBL4 (ATP/GTP Binding Protein-Like 4) is a Protein Coding gene. Diseases associated with AGBL4 include Macular Degeneration, Age-Related, 1. GO annotations related to this gene include tubulin binding and metallocarboxypeptidase activity. An important paralog of this gene is AGBL2.

UniProtKB/Swiss-Prot for AGBL4 Gene

  • Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGBL4 Gene

Genomics for AGBL4 Gene

Regulatory Elements for AGBL4 Gene

Enhancers for AGBL4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AGBL4 on UCSC Golden Path with GeneCards custom track

Promoters for AGBL4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AGBL4 on UCSC Golden Path with GeneCards custom track

Genomic Location for AGBL4 Gene

Chromosome:
1
Start:
48,532,834 bp from pter
End:
50,023,954 bp from pter
Size:
1,491,121 bases
Orientation:
Minus strand

Genomic View for AGBL4 Gene

Genes around AGBL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGBL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGBL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGBL4 Gene

Proteins for AGBL4 Gene

  • Protein details for AGBL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VU57-CBPC6_HUMAN
    Recommended name:
    Cytosolic carboxypeptidase 6
    Protein Accession:
    Q5VU57
    Secondary Accessions:
    • B3KT26
    • B4DG37

    Protein attributes for AGBL4 Gene

    Size:
    503 amino acids
    Molecular mass:
    58230 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with MYLK.
    SequenceCaution:
    • Sequence=BAG52938.1; Type=Frameshift; Positions=501; Evidence={ECO:0000305}; Sequence=BAG57648.1; Type=Frameshift; Positions=501; Evidence={ECO:0000305};

    Alternative splice isoforms for AGBL4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGBL4 Gene

Proteomics data for AGBL4 Gene at MOPED

Post-translational modifications for AGBL4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for AGBL4

No data available for DME Specific Peptides for AGBL4 Gene

Domains & Families for AGBL4 Gene

Protein Domains for AGBL4 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5VU57

UniProtKB/Swiss-Prot:

CBPC6_HUMAN :
  • Belongs to the peptidase M14 family.
Family:
  • Belongs to the peptidase M14 family.
genes like me logo Genes that share domains with AGBL4: view

No data available for Gene Families for AGBL4 Gene

Function for AGBL4 Gene

Molecular function for AGBL4 Gene

UniProtKB/Swiss-Prot Function:
Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5.

Enzyme Numbers (IUBMB) for AGBL4 Gene

Gene Ontology (GO) - Molecular Function for AGBL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with AGBL4: view
genes like me logo Genes that share phenotypes with AGBL4: view

Animal Model Products

CRISPR Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AGBL4 Gene

Localization for AGBL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGBL4 Gene

Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Golgi apparatus. Cytoplasm, cytoskeleton, cilium basal body. Note=Colocalizes with gamma-tubulin in the centrioles at interphase and dividing cells and with glutamylated tubulin in basal bodies of ciliated cells. {ECO:0000269 PubMed:23085998}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AGBL4 Gene COMPARTMENTS Subcellular localization image for AGBL4 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 5
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AGBL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005814 centriole IDA 23085998
genes like me logo Genes that share ontologies with AGBL4: view

Pathways & Interactions for AGBL4 Gene

SuperPathways for AGBL4 Gene

No Data Available

Interacting Proteins for AGBL4 Gene

Gene Ontology (GO) - Biological Process for AGBL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035608 protein deglutamylation ISS --
GO:0035609 C-terminal protein deglutamylation IEA,ISS --
genes like me logo Genes that share ontologies with AGBL4: view

No data available for Pathways by source and SIGNOR curated interactions for AGBL4 Gene

Drugs & Compounds for AGBL4 Gene

No Compound Related Data Available

Transcripts for AGBL4 Gene

mRNA/cDNA for AGBL4 Gene

Unigene Clusters for AGBL4 Gene

ATP/GTP binding protein-like 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AGBL4 Gene

No ASD Table

Relevant External Links for AGBL4 Gene

GeneLoc Exon Structure for
AGBL4
ECgene alternative splicing isoforms for
AGBL4

Expression for AGBL4 Gene

mRNA expression in normal human tissues for AGBL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGBL4 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.4), Brain - Cortex (x7.4), and Brain - Anterior cingulate cortex (BA24) (x6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AGBL4 Gene



SOURCE GeneReport for Unigene cluster for AGBL4 Gene Hs.551844

genes like me logo Genes that share expression patterns with AGBL4: view

Primer Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for AGBL4 Gene

Orthologs for AGBL4 Gene

This gene was present in the common ancestor of animals.

Orthologs for AGBL4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AGBL4 35
  • 91.43 (n)
  • 95.28 (a)
AGBL4 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AGBL4 35
  • 92.51 (n)
  • 94.74 (a)
mouse
(Mus musculus)
Mammalia Agbl4 35
  • 89 (n)
  • 91.3 (a)
Agbl4 16
Agbl4 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AGBL4 35
  • 99.73 (n)
  • 99.59 (a)
rat
(Rattus norvegicus)
Mammalia LOC100911395 35
  • 88.33 (n)
  • 92.25 (a)
oppossum
(Monodelphis domestica)
Mammalia AGBL4 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGBL4 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGBL4 35
  • 77.35 (n)
  • 82.86 (a)
lizard
(Anolis carolinensis)
Reptilia AGBL4 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agbl4 35
  • 71.96 (n)
  • 77.26 (a)
Str.8458 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.12263 35
zebrafish
(Danio rerio)
Actinopterygii agbl4 35
  • 74.07 (n)
  • 78.28 (a)
agbl4 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001814 35
  • 55.19 (n)
  • 49.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31019 35
  • 53.19 (n)
  • 48.72 (a)
CG31019 36
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ccpp-6 35
  • 50.98 (n)
  • 49.88 (a)
ccpp-6 36
  • 47 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
OneToOne
Species with no ortholog for AGBL4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGBL4 Gene

ENSEMBL:
Gene Tree for AGBL4 (if available)
TreeFam:
Gene Tree for AGBL4 (if available)

Paralogs for AGBL4 Gene

Paralogs for AGBL4 Gene

(4) SIMAP similar genes for AGBL4 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with AGBL4: view

Variants for AGBL4 Gene

Sequence variations from dbSNP and Humsavar for AGBL4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs60977321 - 48,539,679(+) AACCA(C/T)GGGGT reference, missense
rs16873 -- 48,670,635(+) GCCAT(A/G)GGGCT intron-variant
rs101144 -- 48,659,962(+) AACTG(C/T)GGCAT intron-variant
rs149306 -- 49,314,223(+) ttggt(C/G)tatgt intron-variant
rs151728 -- 49,309,266(-) GTACA(C/T)AAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AGBL4 Gene

Variant ID Type Subtype PubMed ID
nsv871053 CNV Gain 21882294
dgv222n71 CNV Loss 21882294
esv2677980 CNV Deletion 23128226
esv2659799 CNV Deletion 23128226
esv2748041 CNV Deletion 23290073
nsv777 CNV Insertion 18451855
esv992229 CNV Insertion 20482838
esv22537 CNV Gain 19812545
esv2748052 CNV Deletion 23290073
nsv829771 CNV Gain 17160897
esv2670528 CNV Deletion 23128226
nsv521306 CNV Loss 19592680
dgv223n71 CNV Loss 21882294
esv272726 CNV Insertion 20981092
esv268260 CNV Insertion 20981092
nsv829782 CNV Loss 17160897
nsv527526 CNV Loss 19592680
nsv509235 CNV Insertion 20534489
nsv788 CNV Insertion 18451855
esv274217 CNV Insertion 20981092
esv270062 CNV Insertion 20981092
nsv799 CNV Insertion 18451855
nsv829793 CNV Gain 17160897
esv1541386 CNV Deletion 17803354
esv2668420 CNV Deletion 23128226
nsv819895 CNV Gain 19587683
esv1114612 CNV Deletion 17803354
esv2748063 CNV Deletion 23290073
nsv525248 CNV Loss 19592680
esv2674873 CNV Deletion 23128226
esv2664027 CNV Deletion 23128226
esv22622 CNV Loss 19812545
esv2748074 CNV Deletion 23290073
esv259621 OTHER Complex 20981092
nsv871774 CNV Loss 21882294
esv2748085 CNV Deletion 23290073
esv270529 CNV Insertion 20981092
esv2662284 CNV Deletion 23128226
nsv516709 CNV Loss 19592680
nsv518328 CNV Loss 19592680
esv2675645 CNV Deletion 23128226
nsv829804 CNV Loss 17160897
nsv829815 CNV Gain 17160897
nsv521615 CNV Loss 19592680
esv1301667 CNV Insertion 17803354
esv28920 CNV Loss 19812545
nsv160710 CNV Loss 16902084

Variation tolerance for AGBL4 Gene

Gene Damage Index Score: 4.81; 66.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGBL4 Gene

Human Gene Mutation Database (HGMD)
AGBL4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGBL4 Gene

Disorders for AGBL4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AGBL4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
- elite association - COSMIC cancer census association via MalaCards
Search AGBL4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AGBL4

Genetic Association Database (GAD)
AGBL4
Human Genome Epidemiology (HuGE) Navigator
AGBL4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGBL4
genes like me logo Genes that share disorders with AGBL4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AGBL4 Gene

Publications for AGBL4 Gene

  1. Functional segregation and emerging role of cilia-related cytosolic carboxypeptidases (CCPs). (PMID: 23085998) Rodriguez de la Vega Otazo M. … Bautista J.M. (FASEB J. 2013) 3 4 67
  2. A family of protein-deglutamylating enzymes associated with neurodegeneration. (PMID: 21074048) Rogowski K. … Janke C. (Cell 2010) 2 3
  3. Comparison of the enzymatic and functional properties of three cytosolic carboxypeptidase family members. (PMID: 25416787) Wu H.Y. … Morgan J.I. (J. Biol. Chem. 2015) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3

Products for AGBL4 Gene

Sources for AGBL4 Gene

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